ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe)

gnomAD frequency: 0.00004  dbSNP: rs779295406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035073 SCV001198385 uncertain significance Aicardi-Goutieres syndrome 3 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 102 of the RNASEH2C protein (p.Ser102Phe). This variant is present in population databases (rs779295406, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RNASEH2C-related conditions. ClinVar contains an entry for this variant (Variation ID: 834397). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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